Canonical Allele Identifier: CA343983349

Gene: CFH

Linked Data

• MyVariant Identifiers: chr1:g.196712642G>A (hg19) ; chr1:g.196743512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196743512G>A , CM000663.2:g.196743512G>A	GRCh38
NC_000001.10:g.196712642G>A , CM000663.1:g.196712642G>A	GRCh37
NC_000001.9:g.194979265G>A	NCBI36
NG_007259.1:g.96502G>A , LRG_47:g.96502G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470918.2:n.4222G>A
ENST00000695970.1:c.3020G>A	ENSP00000512297.1:p.Ser1007Asn
ENST00000695971.1:c.3173G>A	ENSP00000512298.1:p.Ser1058Asn
ENST00000695972.1:c.*271G>A	ENSP00000512299.1:n.*271G>A
ENST00000695973.1:c.*1558G>A	ENSP00000512300.1:n.*1558G>A
ENST00000695974.1:c.3017G>A	ENSP00000512301.1:p.Ser1006Asn
ENST00000695975.1:c.*1321G>A	ENSP00000512302.1:n.*1321G>A
ENST00000695976.1:c.3005G>A	ENSP00000512303.1:p.Ser1002Asn
ENST00000695981.1:c.3194G>A	ENSP00000512306.1:p.Ser1065Asn
ENST00000695984.1:c.1202G>A	ENSP00000512309.1:p.Ser401Asn
ENST00000695986.1:c.*2845G>A	ENSP00000512311.1:n.*2845G>A
ENST00000696026.1:c.*1476G>A	ENSP00000512335.1:n.*1476G>A
ENST00000696027.1:c.3188G>A	ENSP00000512336.1:p.Ser1063Asn
ENST00000696028.1:c.3122G>A	ENSP00000512337.1:p.Ser1041Asn
ENST00000696029.1:c.3188G>A	ENSP00000512338.1:p.Ser1063Asn
ENST00000696031.1:c.*2712G>A	ENSP00000512340.1:n.*2712G>A
ENST00000696032.1:c.3194G>A	ENSP00000512341.1:p.Ser1065Asn
ENST00000696033.1:c.1160-36285G>A	ENSP00000512342.1:n.1160-36285G>A
ENST00000367429.9:c.3194G>A MANE Select	ENSP00000356399.4:p.Ser1065Asn
ENST00000367429.8:c.3194G>A	ENSP00000356399.4:p.Ser1065Asn
ENST00000466229.5:n.6292G>A
NM_000186.3:c.3194G>A , LRG_47t1:c.3194G>A	NP_000177.2:p.Ser1065Asn
XR_001737134.2:n.3380G>A
NM_000186.4:c.3194G>A MANE Select	NP_000177.2:p.Ser1065Asn